Clinical and molecular genetic features of congenital spinal muscular atrophy

A neonate presented with the fetal hypokinesia sequence and signs of spinal muscular atorphy (SMA). Severe pathological changes including ballooned neurons and neuronophagia were found not only in themotor nerve nuclei but also in the thalamic, cerebellar, and brainstem nuclei as well as in the dors...

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Veröffentlicht in:	Annals of neurology 1996-11, Vol.40 (5), p.731-738
Hauptverfasser:	Devriendt, Koenraad, Schollen, Els, Cassiman, Jean-Jacques, Fryns, Jean-Pierre, Matthijs, Gert, Lammens, Martin, van Hole, Chris, Devlieger, Hugo, Dom, René
Format:	Artikel
Sprache:	eng
Schlagworte:	Autoantigens - biosynthesis Autoantigens - genetics Biological and medical sciences Brain - pathology Brain Stem - pathology Centromere Cerebellum - pathology Chimera Chromosome Mapping Chromosomes, Human, Pair 5 Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Primers Electromyography Exons Female Ganglia, Spinal - pathology Gene Deletion Humans Infant, Newborn Male Medical sciences Motor Neurons - pathology Nerve Tissue Proteins - genetics Neurology Neuronal Apoptosis-Inhibitory Protein Neurons - pathology Pedigree Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Ribonucleoproteins, Small Nuclear snRNP Core Proteins Spinal Muscular Atrophies of Childhood - genetics Spinal Muscular Atrophies of Childhood - pathology Thalamic Nuclei - pathology Thalamus - pathology Transcription, Genetic
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